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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KIAA1614
KIAA1614
Chromosome 1 · 1q25.3
NCBI Gene: 57710Ensembl: ENSG00000135835.13HGNC: HGNC:29327UniProt: A0AAQ5BGH9
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
centrosome cycleestablishment or maintenance of cell polarityregulation of cellular localizationnucleusneurodegenerative diseaseovarian dysfunctioncervical carcinomaprogressive supranuclear palsy
✦AI Summary

KIAA1614 is a gene located on chromosome 1 with predicted roles in cell polarity and cellular localization based on GO annotations. However, its primary biological function remains incompletely characterized. The gene has emerged as a potential therapeutic target through integrative multi-omics analysis of sporadic Creutzfeldt-Jakob disease (sCJD), identified among five high-evidence targets for this fatal neurodegenerative condition 1. KIAA1614 shows dysregulation across multiple disease contexts: it is hypermethylated in ectopic pregnancy chorionic tissue and may contribute to abnormal embryonic development 2, and is transcriptionally upregulated in type 1 diabetes mellitus complications including neuropathy, ketoacidosis, and polycystic ovary syndrome 3. Additionally, genetic variants near KIAA1614 demonstrate suggestive associations with progression from inflammatory to complicated Crohn's disease 4, and the gene shows methylation alterations following metformin administration in healthy individuals, implicating involvement in energy homeostasis and inflammatory pathways 5. KIAA1614 is also significantly hypermethylated in ulcerative colitis, with promoter hypermethylation correlating with transcriptional silencing 6. Furthermore, genetic variants at this locus associate with circulating cellular adhesion protein levels in cardiovascular disease contexts 7. These findings collectively suggest KIAA1614 involvement in cell adhesion, cellular polarity, and inflammatory/metabolic homeostasis, though mechanistic details require further investigation.

Sources cited
1
KIAA1614 identified as high-evidence therapeutic target for sporadic Creutzfeldt-Jakob disease through multi-omics analysis
PMID: 38996988
2
KIAA1614 identified as hypermethylated gene potentially involved in ectopic pregnancy development
PMID: 34215268
3
KIAA1614 upregulated as common differentially expressed gene in type 1 diabetes mellitus complications
PMID: 36175575
4
SNP near KIAA1614 shows suggestive association with time to progression from inflammatory to complicated Crohn's disease
PMID: 29293112
5
KIAA1614 shows differential DNA methylation following metformin administration, linked to energy homeostasis and inflammatory pathways
PMID: 30545422
6
KIAA1614 significantly hypermethylated and transcriptionally silenced in ulcerative colitis patients
PMID: 27517910
7
Genetic variant at KIAA1614 locus associates with circulating cellular adhesion protein levels
PMID: 26883866
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.33Weak
ovarian dysfunctionOpen Targets
0.06Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
progressive supranuclear palsyOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
menopauseOpen Targets
0.03Suggestive
sporadic Creutzfeld Jacob diseaseOpen Targets
0.03Suggestive
gram-positive bacterial infectionsOpen Targets
0.02Suggestive
COVID-19Open Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
squamous cell lung carcinomaOpen Targets
0.01Suggestive
neuropathyOpen Targets
0.01Suggestive
type 1 diabetes mellitusOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
adenocarcinomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PARD6GShared pathway100%FIP1L1Protein interaction100%WDR82Protein interaction100%RBBP6Protein interaction82%SYMPKProtein interaction82%CPSF3Protein interaction82%
Tissue Expression6 tissues
Heart
100%
Ovary
87%
Lung
43%
Brain
42%
Liver
8%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
KIAA1614PARD6GFIP1L1WDR82RBBP6SYMPKCPSF3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5VZ46
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.77–1.12]
RankingsWhere KIAA1614 stands among ~20K protein-coding genes
  • #17,081of 20,598
    Most Researched10
  • #11,519of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedKIAA1614
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Genetic insights into drug targets for sporadic Creutzfeldt-Jakob disease: Integrative multi-omics analysis.
PMID: 38996988
Neurobiol Dis · 2024
1.00
2
Abnormally increased DNA methylation in chorionic tissue might play an important role in development of ectopic pregnancy.
PMID: 34215268
Reprod Biol Endocrinol · 2021
0.86
3
Identification of novel differentially expressed genes in type 1 diabetes mellitus complications using transcriptomic profiling of UAE patients: a multicenter study.
PMID: 36175575
Sci Rep · 2022
0.71
4
DNA polymorphisms predict time to progression from uncomplicated to complicated Crohn's disease.
PMID: 29293112
Eur J Gastroenterol Hepatol · 2018
0.57
5
Significantly altered peripheral blood cell DNA methylation profile as a result of immediate effect of metformin use in healthy individuals.
PMID: 30545422
Clin Epigenetics · 2018
0.43